Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1207534366
rs1207534366
LGI4
0.882 0.080 19 35134679 start lost A/C;G snv
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs606231471
rs606231471
ECEL1
0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs778360818
rs778360818
PLOD2
0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs780770356
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0